ClinVar for Gene (Select 84450) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196294	NM_032434.4(ZNF512):c.770G>C (p.Ser257Thr)	ZNF512 (S180T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196293	NM_032434.4(ZNF512):c.1549A>G (p.Thr517Ala)	ZNF512 (T440A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196292	NM_032434.4(ZNF512):c.1520G>A (p.Arg507Gln)	ZNF512 (R402Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196291	NM_032434.4(ZNF512):c.1213C>T (p.Arg405Cys)	ZNF512 (R376C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 2558725	NM_032434.4(ZNF512):c.302G>A (p.Gly101Glu)	ZNF512 (G24E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541818	NM_032434.4(ZNF512):c.1367A>G (p.Lys456Arg)	ZNF512 (K351R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521617	NM_032434.4(ZNF512):c.1310C>T (p.Ala437Val)	ZNF512 (A332V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518546	NM_032434.4(ZNF512):c.1002T>G (p.Ser334Arg)	ZNF512 (S334R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464587	NM_032434.4(ZNF512):c.301G>C (p.Gly101Arg)	ZNF512 (G101R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454421	NM_032434.4(ZNF512):c.1405G>A (p.Val469Ile)	ZNF512 (V364I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	GUncertain significance
Select item 2406396	NM_032434.4(ZNF512):c.961C>G (p.Gln321Glu)	ZNF512 (Q321E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358003	NM_032434.4(ZNF512):c.1001G>A (p.Ser334Asn)	ZNF512 (S229N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288012	NM_032434.4(ZNF512):c.136A>G (p.Ile46Val)	ZNF512 (I45V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276301	NM_032434.4(ZNF512):c.600T>A (p.His200Gln)	ZNF512 (H171Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209314	NM_032434.4(ZNF512):c.269A>G (p.His90Arg)	ZNF512 (H13R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	HADHA, HADHB +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31